ClinVar

NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)

Gene:

BAG3:BAG cochaperone 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.11

Genomic location:

• Chr10: 119669950 (on Assembly GRCh38)
• Chr10: 121429462 (on Assembly GRCh37)

Preferred name:

NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)

Other names:

p.I94F:ATT>TTT

HGVS:

• NC_000010.11:g.119669950A>T
• NG_016125.1:g.23581A>T
• NM_004281.4:c.280A>TMANE SELECT
• NP_004272.2:p.Ile94Phe
• NP_004272.2:p.Ile94Phe
• LRG_742t1:c.280A>T
• LRG_742:g.23581A>T
• LRG_742p1:p.Ile94Phe
• NC_000010.10:g.121429462A>T
• NM_004281.3:c.280A>T
• O95817:p.Ile94Phe

This HGVS expression did not pass validation

Protein change:

I94F

Links:

UniProtKB: O95817#VAR_066778; dbSNP: rs145393807

NCBI 1000 Genomes Browser:

rs145393807

Molecular consequence:

• NM_004281.4:c.280A>T - missense variant - [Sequence Ontology: SO:0001583]